Long-Term Outcomes of Twenty-Four Adults with Primary Immunodeficiency from a Single Centre in Singapore

Background: Primary immunodeficiency diseases (PID) in adults are often under-recognised resulting in delay in diagnosis and significant morbidity and mortality. We review the long-term outcomes of adults with PID from the Tan Tock Seng Hospital PID Registry.

Methods: Chart review of adults with PID onset at age 18 years or above who were longitudinally followed-up from time of diagnosis between 1 Jan 1989 and 1 May 2015.

Results: There were 24 patients, 13(54.2%) males and 11(45.8%) females. Eighteen(75%) were ethnic Chinese, 5(20.8%) Malay and 1 Indian. The mean±SD age at diagnosis was 46.3±17.9 years (range 18.4-69.1). By IUIS grouping, antibody deficiencies was most common (14 patients, 58.3%), comprising common variable immunodeficiency [CVID] (8), selective IgA deficiency alone (3), selective IgA with IgG2 and G4 deficiency (1), selective IgG2 and G4 deficiency alone (1) and hypogammaglobulinaemia (1, who had ring chromosome 18). Ten patients(41.7%) had other PIDs, namely immunodeficiency with thymoma (8), chronic mucocutaneous candidiasis [CMC] (1) and hyperIgE syndrome (1).

Half of the patients already had bronchiectasis and 7(29.2%) had chronic sinusitis at diagnosis of PID. Seronegative arthritis developed in 2 females, one was a year following diagnosis of CMC, and the other was coincident with diagnosis of CVID. Systemic lupus erythematosus predated the diagnosis of selective IgA deficiency by 7 years in one patient. There were 7(29.2%) deaths. Four(57.1%) of them had bronchiectasis at diagnosis, and died from chronic respiratory failure with or without pneumonia despite regular adequate IVIG replacement. A 47-year-old female with CVID, who was irregular with IVIG replacement, died from persistent Elizabethkingia meningoseptica bacteraemia and septic shock following consumption of frogs. Two other patients who died were males with thymoma and immunodeficiency; one from metastatic thymoma and the other from multiple infections associated with T cell defects (cytomegalovirus colitis and retinitis, disseminated candida esophagitis and hepatitis, ocular toxoplasmosis).

Conclusions: The spectrum of adult PID patients managed in our centre is as reported elsewhere. Many of our patients present late with established sinopulmonary complications which contributed to their death.